ADAMTSL2, ADAMTS like 2, 9719

N. diseases: 61; N. variants: 12
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3541456
Disease: Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.300 Biomarker disease CTD_human ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. 18677313 2008